title: Biochemical and therapeutical studies in a case of atrophia gyrata.
abstract: A thirty-six years old man from an inbred family with the typical clinical picture of Atrophia gyrata chorioideae et retinae was found to have hyperornithinemia and a partial deficiency of ornithin-ketoacid-transaminase activity. The residual activity was stimulated in vitro by high concentrations of pyridoxal phosphate. We have initiated a therapeutic study with vitamin B6 per os accordingly. Comparitively low doses may be sufficient for long term treatment. The necessity to start therapy early in life is emphazised. Possible mechanisms of the pathogenesis of Atrophia gyrata are discussed.
mesh_terms: D000328:Adult; D001284:Atrophy; D002829:Choroid / Q000473:pathology*; D006801:Humans; D008239:Lysine / Q000097:blood; D008297:Male; D009952:Ornithine / Q000097:blood; D009953:Ornithine-Oxo-Acid Transaminase / Q000172:deficiency*; D010375:Pedigree; D011736:Pyridoxine / Q000627:therapeutic use*; D012160:Retina / Q000473:pathology*; D012162:Retinal Degeneration / Q000097:blood / Q000188:drug therapy / Q000235:genetics*; D000637:Transaminases / Q000172:deficiency*
chemical_list: D009952:Ornithine; D000637:Transaminases; D009953:Ornithine-Oxo-Acid Transaminase; D008239:Lysine; D011736:Pyridoxine